|Title:||Persistent fifth aortic arch associated with 22q11.2 deletion syndrome||Authors:||Lee M.-L.
|Issue Date:||2006||Publisher:||Scientific Communications International Ltd||Journal Volume:||105||Journal Issue:||4||Start page/Pages:||284-289||Source:||Journal of the Formosan Medical Association||Abstract:||
Background: Chromosome 22q11.2 deletion is frequently associated with conotruncal malformations and aortic arch anomalies. This study investigated the association of chromosome 22q11.2 deletion with clinical manifestations in four pediatric patients with persistent fifth aortic arch. Methods: Four patients with persistent fifth aortic arch treated between July 1997 and June 2004 were included in this retrospective study. There were two girls and two boys, aged 2 days to 11.3 years, with persistent fifth aortic arch and cardiac conotruncal malformations. Chart recordings, plain chest films, two-dimensional and Doppler echocardiograms, cardiac catheterization with angiograms, surgical findings, and cytogenetic study were analyzed. Results: Clinically, all four patients had the cardinal phenotypic features of 22q11.2 deletion syndrome, including cardiovascular malformations (conotruncal malformations and aortic arch anomalies), abnormal facies, thymic hypoplasia, canopy anomaly of the palate (high-arched palate, rather than cleft palate), and hypocalcemia (or hypoparathyroidism). All four patients were confirmed to have chromosome 22q11.2 deletion. Conclusion: Congenital conotruncal malformations, including tetralogy of Fallot with pulmonary atresia or stenosis, and aortic arch anomalies including a persistent fifth aortic arch or a right aortic arch, should lead to suspicion of chromosome 22q11.2 deletion when manifested together with any one of the other four cardinal phenotypic features. ?2006 Elsevier & Formosan Medical Association.
|ISSN:||0929-6646||DOI:||10.1016/S0929-6646(09)60119-4||SDG/Keyword:||calcium; angiocardiography; aorta arch anomaly; article; Blalock Taussig anastomosis; case report; child; chromosome 22q; chromosome analysis; chromosome deletion; cleft palate; congenital heart malformation; controlled study; death; Doppler echocardiography; face malformation; Fallot tetralogy; female; fluorescence in situ hybridization; genetic association; heart catheterization; heart surgery; high arched palate; human; hypocalcemia; hypoparathyroidism; infant; lung atresia; male; medical record; patent ductus arteriosus; phenotype; thorax radiography; thymus disease; two dimensional echocardiography
|Appears in Collections:||醫學系|
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.